Canonical Allele Identifier: CA400569671

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574694G>T (hg19) ; chr17:g.63497333G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63497333G>T , CM000679.2:g.63497333G>T	GRCh38
NC_000017.10:g.61574694G>T , CM000679.1:g.61574694G>T	GRCh37
NC_000017.9:g.58928426G>T	NCBI36
NG_011648.1:g.25261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3888G>T MANE Select	ENSP00000290866.4:p.Gln1296His
ENST00000290863.10:c.2166G>T	ENSP00000290863.6:p.Gln722His
ENST00000290866.9:c.3888G>T	ENSP00000290866.4:p.Gln1296His
ENST00000413513.7:c.2043G>T	ENSP00000392247.3:p.Gln681His
ENST00000428043.5:c.*310G>T	ENSP00000397593.2:n.*310G>T
ENST00000577647.2:c.1969+348G>T	ENSP00000464149.1:n.1969+348G>T
ENST00000578839.5:c.*1643G>T	ENSP00000462110.2:n.*1643G>T
ENST00000579314.5:c.*1617G>T	ENSP00000462599.1:n.*1617G>T
NM_000789.3:c.3888G>T	NP_000780.1:p.Gln1296His
NM_001178057.1:c.2043G>T	NP_001171528.1:p.Gln681His
NM_152830.2:c.2166G>T	NP_690043.1:p.Gln722His
XM_005257110.1:c.3339G>T	XP_005257167.1:p.Gln1113His
XM_006721737.2:c.2226G>T	XP_006721800.2:p.Gln742His
XM_006721737.3:c.2226G>T	XP_006721800.2:p.Gln742His
NM_000789.4:c.3888G>T MANE Select	NP_000780.1:p.Gln1296His
NM_001178057.2:c.2043G>T	NP_001171528.1:p.Gln681His
NM_152830.3:c.2166G>T	NP_690043.1:p.Gln722His
NM_001382700.1:c.3321G>T	NP_001369629.1:p.Gln1107His
NM_001382701.1:c.3036G>T	NP_001369630.1:p.Gln1012His
NM_001382702.1:c.1503G>T	NP_001369631.1:p.Gln501His
NR_168483.1:n.2266G>T